Mutagenetix > Incidental Mutations

Incidental Mutation 'R6267:Ddx11'

507118

Institutional Source

Beutler Lab

Gene Symbol

Ddx11

Ensembl Gene

ENSMUSG00000035842

Gene Name

DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11

Synonyms

CHL1, 4732462I11Rik, CHLR1, essa15a, KRG2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6267 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

66123520-66152174 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to A at 66150729 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000153436 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000163605] [ENSMUST00000224497] [ENSMUST00000224903]

AlphaFold

Q6AXC6

Predicted Effect

probably null
Transcript: ENSMUST00000163605

SMART Domains

Protein: ENSMUSP00000130440
Gene: ENSMUSG00000035842

Domain	Start	End	E-Value	Type
DEXDc	11	408	1.14e-153	SMART
Blast:DEXDc2	430	479	6e-14	BLAST
HELICc	682	839	1.4e-66	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000224497

Predicted Effect

probably benign
Transcript: ENSMUST00000224903

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225687

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226095

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.4%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is an enzyme that possesses both ATPase and DNA helicase activities. This gene is a homolog of the yeast CHL1 gene, and may function to maintain chromosome transmission fidelity and genome stability. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele exhibit lethality before E11.5 with growth retardation, failure of chorioallantoic fusion, poor placental labyrinth development, and embryonic cell physiology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	C	13: 59,742,683	D441G	probably benign	Het
4933427D14Rik	T	C	11: 72,195,754	K277R	probably damaging	Het
Aatf	T	C	11: 84,473,100	Y267C	probably benign	Het
Abi3bp	A	G	16: 56,594,497	T341A	probably damaging	Het
Acer2	T	C	4: 86,874,586	F33S	probably damaging	Het
Actr1b	A	G	1: 36,701,163	V299A	possibly damaging	Het
Ampd3	T	A	7: 110,791,180		probably null	Het
Atm	A	C	9: 53,444,000	I2898R	probably damaging	Het
Bpifb6	G	C	2: 153,906,892	K269N	possibly damaging	Het
Cacna1c	T	C	6: 118,598,723	E1927G	possibly damaging	Het
Cacna1c	T	A	6: 118,652,714	T1249S	probably benign	Het
Cars2	TCCCC	TCCC	8: 11,529,599		probably null	Het
Cbll1	A	G	12: 31,487,508	V415A	probably benign	Het
Cd300lf	C	T	11: 115,124,369	V132I	probably benign	Het
Chd2	T	C	7: 73,463,671	E1187G	probably damaging	Het
Cntrl	T	C	2: 35,129,793	L544P	probably damaging	Het
Cryga	A	C	1: 65,103,010	S75A	probably benign	Het
Dcbld1	T	A	10: 52,319,480	Y261*	probably null	Het
Dgke	C	T	11: 89,040,749	V560I	probably benign	Het
Dst	A	C	1: 34,228,672	D5065A	probably damaging	Het
Dusp16	C	A	6: 134,720,493		probably null	Het
Eif4enif1	T	A	11: 3,227,793	V395E	probably damaging	Het
Enox1	A	G	14: 77,577,764	T121A	probably damaging	Het
Enpp4	G	T	17: 44,102,480	N54K	probably benign	Het
Erc2	A	T	14: 28,080,155	K764M	probably damaging	Het
Ercc6	G	T	14: 32,526,403	E304*	probably null	Het
Fam117a	T	A	11: 95,364,145	C115S	possibly damaging	Het
Fcrl5	G	A	3: 87,448,324	G448E	probably damaging	Het
Galntl5	T	C	5: 25,186,165	S21P	probably benign	Het
Garnl3	T	C	2: 33,104,880	D39G	probably benign	Het
Gm14295	C	T	2: 176,808,989	Q91*	probably null	Het
Grb10	T	A	11: 11,970,639		probably benign	Het
Grip1	C	T	10: 120,075,464	Q696*	probably null	Het
Herc2	T	A	7: 56,153,166	C2112*	probably null	Het
Herc2	T	G	7: 56,204,718	L3797R	possibly damaging	Het
Ighm	T	C	12: 113,421,567	I258V	unknown	Het
Jarid2	T	A	13: 44,903,063	Y443N	possibly damaging	Het
Kif13b	A	G	14: 64,738,634	Y466C	probably damaging	Het
Krtap4-6	T	A	11: 99,665,419	R161*	probably null	Het
Lingo4	G	A	3: 94,403,390	G545E	probably benign	Het
Lmo2	T	G	2: 103,970,601	V39G	possibly damaging	Het
Lor	C	A	3: 92,081,812	G56*	probably null	Het
Lrfn1	A	G	7: 28,459,744	R363G	probably benign	Het
Lrp1b	T	C	2: 40,657,525	D446G	probably benign	Het
Ltbp1	G	T	17: 75,005,989	G35V	possibly damaging	Het
Magel2	G	A	7: 62,378,679	V444M	probably damaging	Het
Mkx	A	T	18: 7,000,591		probably null	Het
Ms4a7	A	T	19: 11,333,295	I20N	possibly damaging	Het
Myo5b	A	G	18: 74,616,991	Y173C	probably damaging	Het
Nek1	C	T	8: 61,072,309	Q594*	probably null	Het
Nipbl	T	C	15: 8,300,895	M2349V	possibly damaging	Het
Nmnat2	A	T	1: 153,076,971	H102L	probably damaging	Het
Nup155	T	A	15: 8,153,155	C1201S	probably damaging	Het
Olfr1249	G	A	2: 89,630,631	T89I	probably damaging	Het
Olfr1373	C	A	11: 52,144,596	R311S	probably benign	Het
Olfr686	G	A	7: 105,203,392	T317I	probably damaging	Het
Osbpl1a	A	G	18: 12,819,503		probably null	Het
Pcnt	A	G	10: 76,385,798	V1998A	probably benign	Het
Pitpnc1	T	C	11: 107,226,266	H193R	probably damaging	Het
Pitpnm1	T	C	19: 4,110,522	L781P	probably damaging	Het
Prdm14	A	T	1: 13,118,936	C395S	probably damaging	Het
Prmt8	A	G	6: 127,711,804	I201T	probably damaging	Het
Pter	T	C	2: 12,978,541	V119A	probably damaging	Het
Rab11fip4	T	C	11: 79,690,829		probably null	Het
Rgs9	T	C	11: 109,268,987	N173S	probably benign	Het
Rorb	C	A	19: 18,977,857	V47L	possibly damaging	Het
Rtn4r	A	G	16: 18,151,182	Y158C	probably damaging	Het
Sdr16c5	C	T	4: 4,016,162	G88E	probably damaging	Het
Sfxn1	C	T	13: 54,093,880	T208I	probably benign	Het
Sgo2b	C	T	8: 63,927,793	M668I	probably benign	Het
Slc52a3	G	T	2: 152,007,609		probably null	Het
Smco1	A	T	16: 32,274,014	M168L	probably benign	Het
Spata31d1d	G	A	13: 59,728,464	T419I	possibly damaging	Het
Spink5	T	C	18: 44,014,757	S857P	probably damaging	Het
Stk35	T	A	2: 129,810,888	Y436*	probably null	Het
Tmem225	T	A	9: 40,148,435	I37N	probably damaging	Het
Unkl	T	C	17: 25,231,865	*232R	probably null	Het
Usp16	A	G	16: 87,483,191	N813S	probably benign	Het
Vmn1r128	A	T	7: 21,350,296	*308C	probably null	Het
Vmn2r45	A	G	7: 8,472,208	V607A	probably benign	Het
Vmn2r63	A	T	7: 42,928,635		probably null	Het
Wnk4	A	T	11: 101,273,998	N718Y	probably damaging	Het
Zfp503	G	C	14: 21,985,800	Y349*	probably null	Het
Zfp990	T	A	4: 145,538,103	F557Y	possibly damaging	Het

Other mutations in Ddx11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Ddx11	APN	17	66134137	missense	probably damaging	1.00
IGL01577:Ddx11	APN	17	66139403	missense	possibly damaging	0.95
IGL02558:Ddx11	APN	17	66148672	missense	probably damaging	0.99
IGL02801:Ddx11	APN	17	66148033	missense	probably benign	0.03
R1550:Ddx11	UTSW	17	66138220	missense	probably benign	0.16
R1587:Ddx11	UTSW	17	66149256	missense	probably damaging	1.00
R1601:Ddx11	UTSW	17	66150385	missense	probably damaging	1.00
R1625:Ddx11	UTSW	17	66150697	missense	probably benign	0.45
R1714:Ddx11	UTSW	17	66148759	missense	probably damaging	1.00
R1867:Ddx11	UTSW	17	66135939	splice site	probably null
R1959:Ddx11	UTSW	17	66130728	missense	probably benign	0.27
R1980:Ddx11	UTSW	17	66148739	missense	probably damaging	0.97
R2392:Ddx11	UTSW	17	66149973	missense	probably damaging	1.00
R3118:Ddx11	UTSW	17	66149277	missense	probably damaging	1.00
R3425:Ddx11	UTSW	17	66139439	missense	possibly damaging	0.62
R3983:Ddx11	UTSW	17	66134130	missense	probably damaging	1.00
R4571:Ddx11	UTSW	17	66130773	missense	probably benign	0.20
R4576:Ddx11	UTSW	17	66150726	missense	probably damaging	1.00
R4847:Ddx11	UTSW	17	66130801	missense	probably damaging	1.00
R5010:Ddx11	UTSW	17	66147722	missense	possibly damaging	0.60
R5414:Ddx11	UTSW	17	66148768	missense	probably benign	0.40
R5610:Ddx11	UTSW	17	66150026	missense	probably damaging	1.00
R5822:Ddx11	UTSW	17	66129981	missense	probably benign	0.00
R5972:Ddx11	UTSW	17	66148090	missense	probably benign	0.05
R6017:Ddx11	UTSW	17	66130017	missense	probably benign	0.02
R6296:Ddx11	UTSW	17	66150729	critical splice donor site	probably null
R7205:Ddx11	UTSW	17	66130771	missense	probably benign	0.25
R7531:Ddx11	UTSW	17	66138219	missense	probably benign	0.00
R7544:Ddx11	UTSW	17	66126285	missense	probably damaging	0.98
R7593:Ddx11	UTSW	17	66126198	missense	possibly damaging	0.48
R7598:Ddx11	UTSW	17	66130546	splice site	probably null
R7778:Ddx11	UTSW	17	66130548	critical splice donor site	probably null
R7824:Ddx11	UTSW	17	66130548	critical splice donor site	probably null
R8087:Ddx11	UTSW	17	66149993	missense	probably damaging	1.00
R8379:Ddx11	UTSW	17	66130025	missense	probably benign
R8885:Ddx11	UTSW	17	66143465	missense	probably benign	0.00
R9071:Ddx11	UTSW	17	66143741	missense	probably damaging	1.00
R9252:Ddx11	UTSW	17	66150812	missense	probably benign	0.01
R9398:Ddx11	UTSW	17	66129917	missense	probably benign	0.38

Predicted Primers

PCR Primer
(F):5'- AAGAGTCTCGACTTGTGCATCTAC -3'
(R):5'- ACTAGAGTCCACTGCCTCTG -3'

Sequencing Primer
(F):5'- ACTTGTGCATCTACCCAGGCAG -3'
(R):5'- GGTACACTTGGCAGTCTGC -3'

Posted On

2018-03-15